CYP17 and CYP19 gene polymorphisms in women affected with endometriosis.
OBJECTIVE
To investigate whether CYP17 T>C polymorphism and polymorphisms C1558T and Val80 of CYP19 are related to endometriosis.


METHODS
Clinical study.


METHODS
Women affected with endometriosis (n = 104) and control group (n = 86). The diagnosis of endometriosis was confirmed by the histologic examination of the endometriotic lesions.


RESULTS
In patients affected with endometriosis, we observed that AA and CC genotypes were significantly represented in Val80 and C1558T polymorphisms of CYP19.


CONCLUSIONS
The molecular mechanisms that underlie the development of endometriosis are unclear. Both environmental and genetic factors are involved in the pathogenesis of the disease. The inheritable susceptibility to endometriosis justifies the growing interest in identifying genes and/or genetic polymorphisms that predispose women to an increased risk of developing endometriosis. The identification of single-nucleotide polymorphism (SNP), probably linked to endometriosis, could help to explain its pathogenesis.
Vietri
Maria Teresa
MT
Department of General Pathology, Second Medical School of Naples, Naples, Italy.
Cioffi
Michele
M
Sessa
Marcella
M
Simeone
Serena
S
Bontempo
Paola
P
Trabucco
Elisabetta
E
Ardovino
Mario
M
Colacurci
Nicola
N
Molinari
Anna Maria
AM
Cobellis
Luigi
L
D000293:Adolescent; D000328:Adult; D001141:Aromatase / Q000235:genetics*; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010049:Ovarian Diseases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
D001141:Aromatase; D013254:Steroid 17-alpha-Hydroxylase